Incidental Mutation 'IGL01789:Tas2r130'
ID155158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tas2r130
Ensembl Gene ENSMUSG00000054497
Gene Nametaste receptor, type 2, member 130
SynonymsT2R30, mt2r42, STC 7-4, Tas2r30
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL01789
Quality Score
Status
Chromosome6
Chromosomal Location131629823-131630912 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 131630155 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 226 (S226C)
Ref Sequence ENSEMBL: ENSMUSP00000063954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067597]
Predicted Effect probably damaging
Transcript: ENSMUST00000067597
AA Change: S226C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063954
Gene: ENSMUSG00000054497
AA Change: S226C

DomainStartEndE-ValueType
Pfam:TAS2R 1 304 1.7e-110 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Afm C T 5: 90,525,584 P232S probably benign Het
Atp11b A T 3: 35,789,592 Q81L possibly damaging Het
Cgn G A 3: 94,776,218 P413S possibly damaging Het
Eps8 C T 6: 137,539,366 M5I probably benign Het
Fam83h A T 15: 76,006,120 M143K probably damaging Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hmcn1 C T 1: 150,690,601 C2217Y probably damaging Het
Leo1 T C 9: 75,454,614 probably benign Het
Lipm A G 19: 34,118,747 D321G probably damaging Het
Nos2 C T 11: 78,944,657 probably benign Het
Phtf2 T C 5: 20,794,374 Y257C probably benign Het
Rnpep T C 1: 135,268,095 K359E possibly damaging Het
Tpbg A T 9: 85,844,901 M308L probably benign Het
Trip11 G A 12: 101,871,831 S1715L probably benign Het
Unc13b T A 4: 43,239,462 N3508K probably damaging Het
Utp20 A T 10: 88,798,279 probably null Het
Wdhd1 A T 14: 47,274,817 M39K probably benign Het
Other mutations in Tas2r130
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Tas2r130 APN 6 131630271 missense probably damaging 1.00
IGL01412:Tas2r130 APN 6 131630510 nonsense probably null
IGL01554:Tas2r130 APN 6 131630083 missense probably benign 0.44
R1552:Tas2r130 UTSW 6 131630167 missense probably benign 0.00
R1848:Tas2r130 UTSW 6 131630597 missense probably benign 0.00
R2020:Tas2r130 UTSW 6 131630769 missense probably damaging 1.00
R2060:Tas2r130 UTSW 6 131630817 missense probably benign 0.00
R2518:Tas2r130 UTSW 6 131630073 missense probably damaging 0.98
R3810:Tas2r130 UTSW 6 131630829 start codon destroyed probably null 1.00
R5666:Tas2r130 UTSW 6 131630379 missense possibly damaging 0.82
R6225:Tas2r130 UTSW 6 131630584 small deletion probably benign
R7180:Tas2r130 UTSW 6 131630248 missense probably benign 0.00
R7284:Tas2r130 UTSW 6 131630307 missense probably benign 0.02
R7385:Tas2r130 UTSW 6 131630263 missense probably benign
Posted On2014-02-04